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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-3800799-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3800799&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CDC25B",
"hgnc_id": 1726,
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_021873.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7400000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1743,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021873.4",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245960.10",
"protein_coding": true,
"protein_id": "NP_068659.1",
"strand": true,
"transcript": "NM_021873.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1743,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000245960.10",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021873.4",
"protein_coding": true,
"protein_id": "ENSP00000245960.5",
"strand": true,
"transcript": "ENST00000245960.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1701,
"cds_start": 474,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000439880.6",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Pro158Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405972.2",
"strand": true,
"transcript": "ENST00000439880.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340833.4",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.460-172C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339170.4",
"strand": true,
"transcript": "ENST00000340833.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000467519.5",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "n.457C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467519.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1818,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855782.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525841.1",
"strand": true,
"transcript": "ENST00000855782.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1770,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855780.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525839.1",
"strand": true,
"transcript": "ENST00000855780.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1743,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000855779.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525838.1",
"strand": true,
"transcript": "ENST00000855779.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1722,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940254.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610313.1",
"strand": true,
"transcript": "ENST00000940254.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1701,
"cds_start": 474,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004358.5",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.474C>T",
"hgvs_p": "p.Pro158Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004349.1",
"strand": true,
"transcript": "NM_004358.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1662,
"cds_start": 516,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000855781.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.516C>T",
"hgvs_p": "p.Pro172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525840.1",
"strand": true,
"transcript": "ENST00000855781.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1551,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001287516.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Pro108Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274445.1",
"strand": true,
"transcript": "NM_001287516.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1551,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344256.10",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Pro108Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339125.6",
"strand": true,
"transcript": "ENST00000344256.10",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 463,
"cds_end": null,
"cds_length": 1509,
"cds_start": 282,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001287517.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.282C>T",
"hgvs_p": "p.Pro94Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274446.1",
"strand": true,
"transcript": "NM_001287517.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1470,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001287518.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Pro108Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274447.1",
"strand": true,
"transcript": "NM_001287518.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1470,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000379598.9",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Pro108Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368918.5",
"strand": true,
"transcript": "ENST00000379598.9",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 365,
"cds_end": null,
"cds_length": 1407,
"cds_start": 180,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001287519.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Pro60Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274448.1",
"strand": true,
"transcript": "NM_001287519.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 407,
"cds_end": null,
"cds_length": 1407,
"cds_start": 180,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001287520.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.180C>T",
"hgvs_p": "p.Pro60Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274449.1",
"strand": true,
"transcript": "NM_001287520.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021872.4",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.460-172C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068658.1",
"strand": true,
"transcript": "NM_021872.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 512,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1539,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855783.1",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.460-172C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525842.1",
"strand": true,
"transcript": "ENST00000855783.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 427,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": null,
"cds_end": null,
"cds_length": 1284,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287522.2",
"gene_hgnc_id": 1726,
"gene_symbol": "CDC25B",
"hgvs_c": "c.124-172C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274451.1",
"strand": true,
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{
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{
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],
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}
]
}